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Associations Between Dental Anomalies and Ocular, Cutaneous and Skin Appendages Features

StatusNot Yet Recruiting
PhaseNot applicable
Started
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Record History

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  1. Notable Phase: Not specified to Not applicablev4 Show 7 more changesShow less
    • Start date: Sep 2025 to Feb 2026
    • Primary endpoints: 2 to 1
    • Primary completion date: Sep 2027 to Apr 2027
    • Study completion date: Dec 2027 to Apr 2027
    • Secondary endpoints: 10 to 9
    • Study description shortened, about 354 words
    • Study title expanded, about 5 words
  2. Notable Primary endpoints: 1 to 2
    • Secondary endpoints: 11 to 10
    • Study description expanded, about 17 words
    • Study title shortened, about 1 word
    v3
  3. Notable Primary endpoint revisedv2 Show 4 more changesShow less
    • Interventions: Cephalometric tracing (Other), Whole genome sequencing (Genetic) to Cephalometric tracing (Other), Whole Genome Sequencing (Genetic)
    • Secondary endpoints revised (11)
    • Study description expanded, about 32 words
    • Study title revised
  4. Minor Study First Submitted
  • Stopped: an ongoing trial was terminated, suspended or withdrawn.
  • Notable: the trial’s plan changed such as a big move in its timeline or size, a new primary endpoint, sponsor or phase, or recruiting opened or resumed.
  • Minor: routine progress and housekeeping, such as sites added or enrollment closed.
Considering recent literature, it is possible to hypothesise a link between dental anomalies and ocular and/or cutaneous findings, given the existence of shared genetic and developmental mechanisms between these two anatomical areas. Both the eye and teeth develop from ectodermal and mesenchymal tissues, involving common molecular signalling pathways such as Wnt, BMP and PAX. Genetic variants affecting these pathways can therefore determine combined phenotypes, such as congenital cataracts associated with dental agenesis or enamel malformations. Some rare genetic syndromes, such as Nance-Horan syndrome and oculofacio-cardio-dental (OFCD) syndrome, support the hypothesis of a systemic correlation between odontogenesis and ocular development. In a previous study on congenital cataracts, nearly 10% of probands with variants in the BCOR, CWC27, IFIH1, NHS, and PAX6 genes had various dental abnormalities. Therefore, exploring the possible connection between eye and dental diseases may not only facilitate early and multidisciplinary diagnosis, but also open up new perspectives in genetic research and the development of personalised therapeutic approaches, for which whole genome sequencing (WGS) appears to be the first choice for investigating non-syndromic forms. Therefore, the current clinical study aims to identify variants in genes common to eye diseases and dental anomalies (agenesis, supernumerary teeth, Hutchinson's teeth, mulberry molars) in orthodontic patients over the age of 12 with dental anomalies who are about to begin orthodontic treatment or who are attending routine check-ups at the Orthodontics and Paediatric Dentistry Unit, Department of Clinical, Surgical, Diagnostic and Paediatrics Sciences at the University of Pavia who have a family history of ocular and cutaneous manifestations or presenting at the same time dental, ocular and/or cutaneous anomalies. Patients who are eligible will be invited to participate in the study. After signing the informed consent form, the Case Report Form will be completed to collect the data of interest for the study; previous medical reports will be asked to patients or parents/legal guardians in case of minors to ascertain ocular and cutaneous pathologies; a buccal swab will be taken to collect a DNA sample that will be analysed with Next Generation Sequencing. In addition, cephalometric evaluations will be performed if lateral teleradiographs will be available, if already performed in accordance with Good Clinical Practice for the purposes of orthodontic assessment of patients.
Trial Details
NCT Number NCT06950619
Lead Sponsor University of Pavia
Conditions
(from sponsor)
Congenital Cataract, Tooth Abnormalities, Ocular Pathologies
Related terms Tooth Abnormalities
Enrollment 5 participants
Start Date
Primary Completion (estimated)
Study Completion (estimated)
Updated on ClinicalTrials.gov